First prenatal diagnosis of acyl-CoA oxidase deficiency

J Inherit Metab Dis. 1990;13(3):371-4. doi: 10.1007/BF01799398.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acyl-CoA Oxidase
  • Adrenoleukodystrophy / diagnosis
  • Adult
  • Amniotic Fluid / metabolism
  • Consanguinity
  • Diagnosis, Differential
  • Fatty Acids / metabolism
  • Female
  • Humans
  • Immunoblotting
  • Microbodies / enzymology
  • Oxidation-Reduction
  • Oxidoreductases / deficiency*
  • Plasmalogens / biosynthesis
  • Pregnancy
  • Prenatal Diagnosis*

Substances

  • Fatty Acids
  • Plasmalogens
  • Oxidoreductases
  • Acyl-CoA Oxidase